Annotation Detail

Information
Associated Genes
CLPTM1L
Associated Variants
CLPTM1L c.1316-153G>A ( ENST00000320895.10, ENST00000507807.3, ENST00000630539.1 )
CLPTM1L c.1316-153G>A ( ENST00000320895.10, ENST00000507807.3, ENST00000630539.1 )
Associated Disease
melanoma
Source Database
DisGeNET
Description
We also obtained significant results when we tested the association between rs401681 variant (TERT-CLPTM1L locus) with melanoma risk (Odds ratio, OR; 95% confidence interval, CI=1.24 (1.08-1.43); p-value, 3×10(-3)).
Pubmed
25457634
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.125548389573445
Year of publication
2014
Drugs